HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Benlian, P. Articles by Turpin, G. Search for Related Content PubMed Articles by Benlian, P. Articles by Turpin, G.

Familial acromegaly: a specific clinical entity—Further evidence from the genetic study of a three-generation family

Benlian P, Giraud S, Lahlou N, Roger M, Blin C, Holler C, Lenoir G, Sallandre J, Calender A, Turpin G. Familial acromegaly: a specific clinical entity. Eur J Endocrinol 1995;133:451–6. ISSN 0804–4643

Familial acromegaly is a very rare inherited disorder, characterized by the clustering within a single family of several related cases with somatotroph adenomas and acromegaly. The causes of these dominantly inherited pituitary tumours remain unknown. Although these families have a clinical presentation distinct from that of multiple endocrine neoplasia type 1 (MEN-1), the question of this syndrome as being linked to the MEN-1 locus has remained open. Our aim was to study a three-generation family with cases of acromegaly in a mother and her son, to explore better the clinical presentation of the disease, its pattern of inheritance and to test the hypothesis of a genetic linkage to the MEN-1 locus using closely linked polymorphic genetic markers. The refined analysis of 15 unaffected relatives revealed miscellaneous non-specific endocrine dysfunctions and the presence of multiple lipomata, as noted previously in some cases. Moreover, the notion of acromegalo-gigantism in the maternal grandmother and an incomplete penetrance appeared even more typical, suggesting that familial acromegaly is a specific clinical entity. Finally, under the hypotheses assumed for segregation analysis, no clinical, biological or genetic evidence of linkage to the MEN-1 locus could be retained in this family. However, these conclusions were limited because of incomplete penetrance and uncertain definition of the carrier status. Therefore, we conclude that further identification of the genetic predisposition to familial acromegaly might be obtained from the combined molecular genetic analysis of several families presenting with the same clinical features.

Pascale Benlian, Service d'Endocrinologie Métabolisme, Groupe Hospitalier Pitié Salpétrière, 83 Boulevard de l'Hôpital, 75651 Paris cedex 13, France

This article has been cited by other articles:

				C. A. Leontiou, M. Gueorguiev, J. van der Spuy, R. Quinton, F. Lolli, S. Hassan, H. S. Chahal, S. C. Igreja, S. Jordan, J. Rowe, et al. The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas J. Clin. Endocrinol. Metab., June 1, 2008; 93(6): 2390 - 2401. [Abstract] [Full Text] [PDF]

				O. Vierimaa, M. Georgitsi, R. Lehtonen, P. Vahteristo, A. Kokko, A. Raitila, K. Tuppurainen, T. M. L. Ebeling, P. I. Salmela, R. Paschke, et al. Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene. Science, May 26, 2006; 312(5777): 1228 - 1230. [Abstract] [Full Text] [PDF]

				B. S. Soares, K. Eguchi, and L. A. Frohman Tumor Deletion Mapping on Chromosome 11q13 in Eight Families with Isolated Familial Somatotropinoma and in 15 Sporadic Somatotropinomas J. Clin. Endocrinol. Metab., December 1, 2005; 90(12): 6580 - 6587. [Abstract] [Full Text] [PDF]

				M. R. Gadelha, T. R. Prezant, K. N. Une, R. P. Glick, S. F. Moskal II, M. Vaisman, S. Melmed, R. D. Kineman, and L. A. Frohman Loss of Heterozygosity on Chromosome 11q13 in Two Families with Acromegaly/Gigantism Is Independent of Mutations of the Multiple Endocrine Neoplasia Type I Gene J. Clin. Endocrinol. Metab., January 1, 1999; 84(1): 249 - 256. [Abstract] [Full Text]

				B. T. Teh, S. Kytölä, F. Farnebo, L. Bergman, F. K. Wong, G. Weber, N. Hayward, C. Larsson, B. Skogseid, A. Beckers, et al. Mutation Analysis of the MEN1 Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism J. Clin. Endocrinol. Metab., August 1, 1998; 83(8): 2621 - 2626. [Abstract] [Full Text]

				C. Tanaka, K. Yoshimoto, S. Yamada, H. Nishioka, S. Ii, M. Moritani, T. Yamaoka, and M. Itakura Absence of Germ-Line Mutations of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene in Familial Pituitary Adenoma in Contrast to MEN1 in Japanese J. Clin. Endocrinol. Metab., March 1, 1998; 83(3): 960 - 965. [Abstract] [Full Text]

				S. Yamada, K. Yoshimoto, T. Sano, K. Takada, M. Itakura, M. Usui, and A. Teramoto Inactivation of the Tumor Suppressor Gene on 11q13 in Brothers with Familial Acrogigantism without Multiple Endocrine Neoplasia Type 1 J. Clin. Endocrinol. Metab., January 1, 1997; 82(1): 239 - 242. [Abstract] [Full Text] [PDF]